In March 2006, we were blessed with a beautiful baby boy, Sam. He was exactly what we thought, a little boy would be. He was walking by 11 months and running by his 1st birthday. He was reaching all his milestones, and we had no reason to suspect anything was wrong. He had what we thought were normal childhood issues, catching every cold, giving us much grief at bedtime, and selective hearing.
Around his 2nd birthday, we started to notice that his speech wasn’t developing. We received our 1st referral to a paediatrician. This began the long road to diagnosis. We spent the next 2 1/2 years trying to “fix” Sam. He had test after test, which just kept coming back with nothing. He started seeing a speech therapist, an occupational therapist, joined playgroups, and began daycare, all in the hope of improving Sam’s ability. Nothing was working. We were desperate for a diagnosis, we needed to know why he was struggling, and most importantly what to do.
In October 2010, our world fell apart. Sam’s diagnosis was worse than we could have ever imagined. He had a condition called Sanfilippo Syndrome (MPSIII). Its a lysosomal storage disease, which means that he can’t effectively break down an enzyme, so it, along with others would continue to accumulate in his body. Over time this build up, would affect every cell in his body. Sam would lose all his skills, everything... his ability to walk, talk and even eat, Sam was never going to get better. There was no treatment or cure, and he would probably not live past his mid teens.
Not only was Sam ‘broken’, but so were we. We cried so many tears, over what was going to happen, and also grieving the loss of the life we had always dreamed of, for Sam. It was such a devastating time for us. The first 12 months were the hardest. We read every article, asked questions of anyone who may have had an answer, and finally came to terms with the new life we had been given.
We decided to always search for treatments, and keep up to date with our new MPS family, but also to live as normal a life as possible. Sam is now 7 and has a little brother Tom (4) who thankfully doesn’t share the same condition. They are happy little boys, who bring us much joy. At times it can be very challenging, keeping Sam well, and also trying to raise a well adjusted little man, Tom. As always we just try our best, and hope that things will work out fine.
Our story is not just a story of sadness, its a story of hope, love and courage to keep fighting. We haven’t given up, just yet. Every day we do our best to keep Sam happy and healthy, in the hope that one day a treatment will come.